Symptoms & Diagnosis

Cystic fibrosis (CF) is an inherited illness that affects the lungs, pancreas, liver, intestines, sinuses and reproductive organs.

In CF, an abnormal gene causes mucus to build up throughout the body. This mucus blocks the airways, causing frequent lung infections. Symptoms typically begin in early childhood, but some patients do not have symptoms until adulthood.

Cystic Fibrosis Symptoms 

• Male infertility
• Persistent coughing with phlegm
• Poor growth and inability to gain weight
• Salty sweat
• Wheezing or shortness of breath

Diagnosis

The most common diagnostic test for CF is the sweat test. This noninvasive test measures the amount of salt in your sweat. Your doctor may also order:

• Analysis of sputum cultures and/or stool samples
• Chest or sinus X-ray
• CT scan
• Genetic testing of a blood sample
• Lung function tests

Diagnosis Before Birth

During pregnancy, you can find out if your baby has CF. We offer two tests that can be done before birth.

In amniocentesis, your doctor inserts a hollow needle through your abdominal wall into your uterus. They collect a few cells from the amniotic fluid around the baby. Then we test the fluid to see if the baby's cystic fibrosis transmembrane conductance regulator (CFTR) genes are normal.

In a chorionic villus biopsy, your doctor uses ultrasound to guide a thin tube through your vagina and into your uterus. We will remove a tiny piece of the placenta to biopsy. Then we test the cells of the placenta to see if the baby has CF.

Carrier Genetic Testing

 A genetics counselor can take a blood or saliva sample to see if it contains the abnormal CFTR gene that causes CF. It will detect nine out of 10 cases.

You may want to check whether you are a CF carrier, if you:

• Have a family history of CF
• Are a partner of someone with CF
• Are a couple planning a pregnancy

Check with your insurance plan on coverage for genetic testing.